Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs

(2019) Marina T. DiStefano et al.   GENETICS IN MEDICINE

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

(2019) Jun Shen et al.   GENETICS IN MEDICINE

A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children

(2019) A. Eliot Shearer et al.   GENETICS IN MEDICINE

LitVar: a semantic search engine for linking genomic variant data in PubMed and PMC

(2018) Alexis Allot et al.   NUCLEIC ACIDS RESEARCH

Genomic Landscape and Mutational Signatures of Deafness-Associated Genes

(2018) Hela Azaiez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

(2018) Ahmad N. Abou Tayoun et al.   HUMAN MUTATION

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

(2018) Andrea M. Oza et al.   HUMAN MUTATION

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar

(2017) Steven M. Harrison et al.   GENETICS IN MEDICINE

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

(2016) Nilah M. Ioannidis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing–based diagnostic testing and interpretation

(2015) Ahmad N. Abou Tayoun et al.   GENETICS IN MEDICINE

American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss

(2014)   GENETICS IN MEDICINE

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

LOVD v.2.0: the next generation in gene variant databases

(2011) Ivo F. A. C. Fokkema et al.   HUMAN MUTATION